PMC Articles for MedGen (Select 811490) - PMC

Select item 51597561.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan

Liena E O Elsayed, Inaam N Mohammed, Ahlam A A Hamed, Maha A Elseed, Adam Johnson, Mathilde Mairey, Hassab Elrasoul S A Mohamed, Mohamed N Idris, Mustafa A M Salih, Sarah M El-sadig, Mahmoud E Koko, Ashraf Y O Mohamed, Laure Raymond, Marie Coutelier, Frédéric Darios, Rayan A Siddig, Ahmed K M A Ahmed, Arwa M A Babai, Hiba M O Malik, Zulfa M B M Omer, Eman O E Mohamed, Hanan B Eltahir, Nasr Aldin A Magboul, Elfatih E Bushara, Abdelrahman Elnour, Salah M Abdel Rahim, Abdelmoneim Alattaya, Mustafa I Elbashir, Muntaser E Ibrahim, Alexandra Durr, Anjon Audhya, Alexis Brice, Ammar E Ahmed, Giovanni Stevanin

Eur J Hum Genet. 2017 Jan; 25(1): 100–110. Published online 2016 Sep 7. doi: 10.1038/ejhg.2016.108

PMCID:: PMC5159756

Article PDF–2.2M

Select item 69064632.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke I. Schouten, Judith van Gaalen, Rowdy P. P. Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck-Zwarts, Christine de Die-Smulders, Eva H. Brilstra, Corien C. Verschuuren, Bert B. A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A. Duijkers, B. Jaeger, Jolanda H. Schieving, Bart P. van de Warrenburg, Erik-Jan Kamsteeg

Eur J Hum Genet. 2020 Jan; 28(1): 40–49. Published online 2019 Sep 5. doi: 10.1038/s41431-019-0497-z

PMCID:: PMC6906463

Article PDF–947K

Select item 62627113.

Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis

Masako Mukai, Kishin Koh, Yuko Ohnuki, Eiichiro Nagata, Yoshihisa Takiyama, Shunya Takizawa

Intern Med. 2018 Nov 1; 57(21): 3183–3186. Published online 2018 Jun 6. doi: 10.2169/internalmedicine.0976-18

PMCID:: PMC6262711

Article PDF–468K

Select item 62371974.

The spastic paraplegia-associated phospholipase DDHD1 is a primary brain phosphatidylinositol lipase

Jordon M. Inloes, Hui Jing, Benjamin F. Cravatt

Biochemistry. Author manuscript; available in PMC 2019 Oct 2.

Published in final edited form as: Biochemistry. 2018 Oct 2; 57(39): 5759–5767. Published online 2018 Sep 17. doi: 10.1021/acs.biochem.8b00810

PMCID:: PMC6237197

Article PDF–1.1M

Select item 61529365.

Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation

Erin L. Slosarek, Amber L. Schuh, Iryna Pustova, Adam Johnson, Jennifer Bird, Matthew Johnson, E.B. Frankel, Nilakshee Bhattacharya, Michael G. Hanna, Jordan E. Burke, David A. Ruhl, Kyle Quinney, Samuel Block, Jennifer L. Peotter, Edwin R Chapman, Michael D. Sheets, Samuel E. Butcher, Scott M. Stagg, Anjon Audhya

Cell Rep. Author manuscript; available in PMC 2018 Sep 24.

Published in final edited form as: Cell Rep. 2018 Aug 28; 24(9): 2248–2260. doi: 10.1016/j.celrep.2018.07.081

PMCID:: PMC6152936

Article PDF–3.4M

Select item 61194896.

Genome sequencing uncovers phenocopies in primary progressive multiple sclerosis

Xiaoming Jia, Lohith Madireddy, Stacy Caillier, Adam Santaniello, Federica Esposito, Giancarlo Comi, Olaf Stuve, Yuan Zhou, Bruce Taylor, Trevor Kilpatrick, Filippo Martinelli‐Boneschi, Bruce A.C. Cree, Jorge R. Oksenberg, Stephen L. Hauser, Sergio E Baranzini

Ann Neurol. 2018 Jul; 84(1): 51–63. Published online 2018 Jul 3. doi: 10.1002/ana.25263

PMCID:: PMC6119489

Article PDF–2.0M

Select item 58541517.

Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets

Jordon M. Inloes, William B. Kiosses, Huajin Wang, Tobias C. Walther, Robert V. Farese, Jr., Benjamin F. Cravatt

Biochemistry. Author manuscript; available in PMC 2019 Feb 6.

Published in final edited form as: Biochemistry. 2018 Feb 6; 57(5): 827–838. Published online 2017 Dec 26. doi: 10.1021/acs.biochem.7b01028

PMCID:: PMC5854151

Article PDF–988K

Select item 43952728.

Spastin Binds to Lipid Droplets and Affects Lipid Metabolism

Chrisovalantis Papadopoulos, Genny Orso, Giuseppe Mancuso, Marija Herholz, Sentiljana Gumeni, Nimesha Tadepalle, Christian Jüngst, Anne Tzschichholz, Astrid Schauss, Stefan Höning, Aleksandra Trifunovic, Andrea Daga, Elena I. Rugarli

PLoS Genet. 2015 Apr; 11(4): e1005149. Published online 2015 Apr 13. doi: 10.1371/journal.pgen.1005149

PMCID:: PMC4395272

Article PDF–4.5M

Select item 37737759.

Protrudin binds atlastins and endoplasmic reticulum-shaping proteins and regulates network formation

Jaerak Chang, Seongju Lee, Craig Blackstone

Proc Natl Acad Sci U S A. 2013 Sep 10; 110(37): 14954–14959. Published online 2013 Aug 22. doi: 10.1073/pnas.1307391110

PMCID:: PMC3773775

Article PDF–1.5M

Select item 361267810.

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

Christian Beetz, Adam Johnson, Amber L. Schuh, Seema Thakur, Rita-Eva Varga, Thomas Fothergill, Nicole Hertel, Ewa Bomba-Warczak, Holger Thiele, Gudrun Nürnberg, Janine Altmüller, Renu Saxena, Edwin R. Chapman, Erik W. Dent, Peter Nürnberg, Anjon Audhya

Proc Natl Acad Sci U S A. 2013 Mar 26; 110(13): 5091–5096. Published online 2013 Mar 11. doi: 10.1073/pnas.1217197110

PMCID:: PMC3612678

Article PDF–933K

Select item 359703011.

A patient-derived stem cell model of hereditary spastic paraplegia with SPAST mutations

Greger Abrahamsen, Yongjun Fan, Nicholas Matigian, Gautam Wali, Bernadette Bellette, Ratneswary Sutharsan, Jyothy Raju, Stephen A. Wood, David Veivers, Carolyn M. Sue, Alan Mackay-Sim

Dis Model Mech. 2013 Mar; 6(2): 489–502. Published online 2012 Dec 20. doi: 10.1242/dmm.010884